Phenotypic Variation in 46,XX Disorders of Sex Development due to the Fourth Zinc Finger Domain Variant of WT1: A Familial Case Report.
Sex Dev
; 17(1): 51-55, 2023.
Article
de En
| MEDLINE
| ID: mdl-36796343
ABSTRACT
INTRODUCTION:
The variants in the zinc finger (ZF) domains 1-3 in WT1 are one of the major causes of 46,XY disorders of sex development (DSD). Recently, variants in the fourth ZF (ZF4 variants) were reported to cause 46,XX DSD. However, all the 9 patients reported were de novo, and no familial cases were identified. CASE PRESENTATION ANDRESULTS:
The proband (16-year-old social female) had a 46,XX karyotype with dysplastic testes and moderate virilization in genitalia. A ZF4 variant, p.Arg495Gln, in WT1 was identified in the proband, her brother, and mother. The mother did not show any virilization with normal fertility, and the 46,XY brother developed normal puberty.CONCLUSION:
The phenotypic variations due to the ZF4 variant are extremely broad in 46,XX cases.Mots clés
Texte intégral:
1
Collection:
01-internacional
Base de données:
MEDLINE
Sujet principal:
Troubles du développement sexuel
/
Troubles du développement sexuel de sujets 46, XX
Type d'étude:
Prognostic_studies
Limites:
Adolescent
/
Female
/
Humans
/
Male
Langue:
En
Journal:
Sex Dev
Sujet du journal:
CIENCIAS DO COMPORTAMENTO
Année:
2023
Type de document:
Article
Pays d'affiliation:
Japon